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Osteogenesis imperfecta

Gene: PYCR1

Red List (low evidence)

PYCR1 (pyrroline-5-carboxylate reductase 1)
EnsemblGeneIds (GRCh38): ENSG00000183010
EnsemblGeneIds (GRCh37): ENSG00000183010
OMIM: 179035, Gene2Phenotype
PYCR1 is in 13 panels

3 reviews

Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)

Red List (low evidence)

Chris Boustred (Genomics England)

Comment when marking as ready: Keep as red as disagreement between reviewers and query association with OI
Created: 10 May 2016, 3:26 p.m.

Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)

Green List (high evidence)

De Barsy syndrome
Created: 27 Nov 2015, 3:03 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

History Filter Activity

10 May 2016, Gel status: 1

Gene classified by Genomics England curator

Chris Boustred (Genomics England)

This gene has been classified as Red List (Low Evidence).

23 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PYCR1 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory